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A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

BACKGROUND: Activating mutations of the thyroid stimulating hormone receptor gene (TSHR) are rare in the neonate and in the pediatric population. They are usually present in the germline, and are either inherited or occur de novo. Somatic mutations in TSHR are unusual in the pediatric population. ME...

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Autori principali: Kohn, Brenda, Grasberger, Helmut, Lam, Leslie L., Ferrara, Alfonso Massimiliano, Refetoff, Samuel
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc. 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858372/
https://ncbi.nlm.nih.gov/pubmed/19191749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2008.0302
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